Canonical Allele Identifier: CA2788800876

Gene: RGR

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.84247745_84247746insACAA , CM000672.2:g.84247745_84247746insACAA	GRCh38
NC_000010.10:g.86007501_86007502insACAA , CM000672.1:g.86007501_86007502insACAA	GRCh37
NC_000010.9:g.85997481_85997482insACAA	NCBI36
NG_009106.1:g.7693_7694insACAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358110.7:c.234_235insACAA	ENSP00000350823.5:p.Arg79ThrfsTer?
ENST00000359452.9:c.234_235insACAA	ENSP00000352427.4:p.Arg79ThrfsTer?
ENST00000478727.6:c.*305_*306insACAA	ENSP00000498966.1:n.*305_*306insACAA
ENST00000483744.6:c.234_235insACAA	ENSP00000498992.1:p.Arg79ThrfsTer?
ENST00000650682.1:c.-304_-303insACAA	ENSP00000498223.1:n.-304_-303insACAA
ENST00000650774.1:c.184_185insACAA	ENSP00000498908.1:p.Pro62HisfsTer21
ENST00000651155.1:c.234_235insACAA	ENSP00000499193.1:p.Arg79ThrfsTer?
ENST00000651237.1:c.-304_-303insACAA	ENSP00000498404.1:n.-304_-303insACAA
ENST00000652073.1:c.-304_-303insACAA	ENSP00000498800.1:n.-304_-303insACAA
ENST00000652092.2:c.234_235insACAA MANE Select	ENSP00000498299.1:p.Arg79ThrfsTer?
ENST00000652122.1:c.234_235insACAA	ENSP00000498917.1:p.Arg79ThrfsTer?
ENST00000652310.1:c.*162_*163insACAA	ENSP00000498927.1:n.*162_*163insACAA
ENST00000358110.6:c.234_235insACAA	ENSP00000350823.5:p.Arg79ThrfsTer?
ENST00000359452.8:c.234_235insACAA	ENSP00000352427.4:p.Arg79ThrfsTer?
ENST00000372092.3:c.184_185insACAA	ENSP00000361164.3:p.Pro62HisfsTer25
ENST00000469446.5:n.272_273insACAA
ENST00000478727.5:n.272_273insACAA
ENST00000483660.5:n.108-1177_108-1176insACAA
ENST00000483744.5:n.41_42insACAA
ENST00000483771.5:n.186_187insACAA
NM_001012720.1:c.234_235insACAA	NP_001012738.1:p.Arg79ThrfsTer?
NM_001012722.1:c.234_235insACAA	NP_001012740.1:p.Arg79ThrfsTer?
NM_002921.3:c.234_235insACAA	NP_002912.2:p.Arg79ThrfsTer?
XM_011540028.1:c.261_262insACAA	XP_011538330.1:p.Arg88ThrfsTer?
XM_024448118.1:c.234_235insACAA	XP_024303886.1:p.Arg79ThrfsTer?
XR_002957005.1:n.1584_1585insACAA
NM_001012720.2:c.234_235insACAA MANE Select	NP_001012738.1:p.Arg79ThrfsTer?
NM_001012722.2:c.234_235insACAA	NP_001012740.1:p.Arg79ThrfsTer?
NM_002921.4:c.234_235insACAA	NP_002912.2:p.Arg79ThrfsTer?